Kathryn Moffett, MD, a pediatric infectious diseases specialist at WVU Medicine Children’s, discusses the disease, what causes it, and treatment options. She is the director of WVU’s Mountain State Cystic Fibrosis Center.
What is cystic fibrosis?
Cystic fibrosis (CF) is a frequently fatal, inherited disease that affects the body’s mucus glands. CF causes mucus and sweat to build up in the intestines and lungs causing frequent infections and eventually permanent lung damage. The pancreas can become blocked with mucus and prevent digestive enzymes from getting into the intestines to digest fat and protein. People with CF lose excessive amounts of salt when they sweat. This disrupts the balance of minerals in the blood and may cause an abnormal heart beat. CF patients are also at risk of experiencing shock. Today, the average life expectancy for someone with CF is 40 years old.
What are the symptoms?
Infants and young children should be tested for CF if they experience a chronic cough with thick mucus, salty-tasting skin, poor growth, frequent wheezing or pneumonia, or persistent diarrhea. A baby born with CF usually shows symptoms during the first year of life, but sometimes, the disease may not show up until adolescence or later.
Who is at risk for cystic fibrosis?
If both parents are carriers of the CF gene, a child may inherit the disease. About one in every 20 Americans are carriers of the defective CF gene, but they do not experience symptoms. You only know if you’re a carrier by having genetic testing performed or if you have a child diagnosed with CF. More than 30,000 people are living with cystic fibrosis, and there are about 1,000 new cases diagnosed each year.
How is it diagnosed?
People with CF have more chloride (a component of salt) in their sweat than people who do not have CF. A sweat test is performed to measure the amount of chloride in the sweat. No needles are used in this test. A colorless, odorless chemical and a little electrical stimulation is applied to a small area of an arm or leg to make glands produce sweat. The sweat is then collected on a piece of filter paper or gauze. The sample is sent to a lab to measure the chloride level.
How is it treated?
Treatment includes taking replacement digestive enzymes with each meal, CF vitamins, breathing treatments 2-3 times a day, and frequent monitoring for infections. Many CF patients will be treated with antibiotics several times a year and frequently be admitted to the hospital for 1-2 weeks of IV antibiotics.
Is there a cure?
There is no cure for CF. However, new medicines, called modulators, have recently been approved to help reduce mucus in the lungs, sinus tracts, and gastrointestinal tract. The modulator is designed to help patients with certain gene mutations, and new research continues to find modulators for all patients with CF.
As a Cystic Fibrosis Foundation accredited center, WVU’s Mountain State Cystic Fibrosis Center has more than two decades of experience caring for children and adults with this debilitating disease. Our leading-edge research combined with our team approach results in the highest lung function for children with CF in the state, as well as the United States.
Make an appointment: 855-WVU-CARE